Variant report

Variant	rs57615867
Chromosome Location	chr12:116797748-116797749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116795827..116800333-chr12:116800677..116806622,10	K562	blood:
2	chr12:116728521..116730114-chr12:116796783..116799180,2	MCF-7	breast:
3	chr12:116795827..116800092-chr12:116804104..116806622,3	K562	blood:
4	chr12:116713317..116716868-chr12:116795567..116799034,4	MCF-7	breast:
5	chr12:116796080..116800323-chr12:116810263..116814376,4	K562	blood:
6	chr12:116712861..116715837-chr12:116795906..116798539,2	K562	blood:
7	chr12:116796063..116798440-chr12:116800677..116803897,4	K562	blood:
8	chr12:116782797..116785324-chr12:116796458..116799229,3	K562	blood:
9	chr12:116714337..116716286-chr12:116794773..116798539,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction
ENSG00000258346	Chromatin interaction

rs_ID	r²[population]
rs10850618	0.89[EUR][1000 genomes]
rs10850619	0.89[EUR][1000 genomes]
rs11068003	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068006	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068007	0.86[EUR][1000 genomes]
rs12228903	0.81[ASN][1000 genomes]
rs12230486	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12371905	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116795200-116800000	Enhancers	Fetal Muscle Trunk	muscle
2	chr12:116795400-116800000	Enhancers	Fetal Muscle Leg	muscle
3	chr12:116795600-116798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:116795800-116798000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:116796000-116797800	Enhancers	Fetal Heart	heart
6	chr12:116796200-116797800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:116796200-116798000	Enhancers	Fetal Intestine Small	intestine
8	chr12:116796400-116797800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:116796400-116797800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:116796400-116798600	Enhancers	Fetal Intestine Large	intestine
11	chr12:116796400-116799600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:116796400-116799600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:116796600-116797800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr12:116796600-116797800	Flanking Active TSS	Dnd41	blood
15	chr12:116796600-116797800	Enhancers	HSMMtube	muscle
16	chr12:116796600-116798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:116796600-116798000	Enhancers	Placenta	Placenta
18	chr12:116796600-116800000	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:116796800-116797800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:116796800-116798400	Weak transcription	Psoas Muscle	Psoas
21	chr12:116796800-116798800	Weak transcription	Spleen	Spleen
22	chr12:116796800-116803800	Weak transcription	Colonic Mucosa	Colon
23	chr12:116797000-116797800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:116797000-116797800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:116797000-116797800	Enhancers	Brain Anterior Caudate	brain
26	chr12:116797000-116797800	Enhancers	Fetal Stomach	stomach
27	chr12:116797000-116797800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:116797000-116797800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:116797000-116797800	Enhancers	A549	lung
30	chr12:116797000-116799000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:116797000-116800000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:116797200-116797800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:116797200-116797800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:116797200-116797800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr12:116797200-116797800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:116797200-116797800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:116797200-116797800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:116797200-116797800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:116797200-116797800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr12:116797200-116797800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:116797200-116797800	Flanking Active TSS	Fetal Thymus	thymus
42	chr12:116797200-116797800	Enhancers	HSMM	muscle
43	chr12:116797200-116798000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:116797200-116798000	Flanking Active TSS	Thymus	Thymus
45	chr12:116797400-116797800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:116797400-116797800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:116797400-116797800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:116797400-116797800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:116797400-116797800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:116797400-116797800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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